Callosal agenesis and open lip schizencephaly
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《美国医学杂志》
1 Department of Pediatrics, Medical College Trivandrum, Kerala, India
2 Department of Pediatric Neurology, Medical College Trivandrum, Kerala, India
Abstract
We report a case of a new born who presented with neonatal seizures; and who had coexistence of a Corpus Callosum Agenesis with a bilateral Open lip Schizencephaly and a Dandy Walker malformation. The investigations for an underlying etiology, however was futile.
Keywords: Agenesis; Corpus callosum; Schizencephaly
Agenesis of the corpus callosum (CCA) may be associated with Dandy Walker malformation (DWM), Schizencephaly, other migrational anomalies and midline anomalies like cleft palate. It may be part of Aicardi, Andermann[1], and Apert[2] syndromes, trisomies 8, 13 or 18[3] or may be X linked[4]. Metabolic disorders and substance abuse are also postulated etiologies. A hospital based radiological survey[5] found callosal dysgenesis in 21% of children scanned, while Bodensteiner et al[6] found an incidence of 1.6% for partial or complete CCA. Schizencephaly (unilateral or bilateral) is an abnormal cleft in the brain, lined with gray matter that may communicate with the ventricular system; the latter is called an open lip Schizencephaly. There are very few reports of Schizencephaly in a patient with CCA.[7]
Case Report
A three-day-old term male infant, born of a non- consanguineous marriage and an uncomplicated normal delivery, presented with focal seizures on day one. The mother was on Alpha Methyl Dopa from late in the second trimester, for pregnancy induced hypertension (PIH). The baby had a birth weight of 3.4 kg, microcephaly and a low anterior hairline. Known biochemical causes for a neonatal seizure were excluded. A CT scan of the head showed bilateral open lip schizencephaly and corpus callosal agenesis Figure1 with DWM. The axial CT showed parallel widely separated frontal horns of the lateral ventricles, a high riding third ventricle and bilateral Open Lip Schizencephaly. Colpocephaly which is a usual accompaniment of CCA, was remarkable by its absence. The CT scan also showed hypoplasia of the cerebellar vermis, enlargement of the posterior fossa and an abnormal communication of the fourth ventricle with the posterior fossa.
An Electroencephalogram taken on the 4th day of seizure revealed isolated bursts of sharp waves occurring independently on either side; typically described as the checkerboard pattern in CCA Figure2. A metabolic work up was done to exclude Pyruvate dehydrogenase deficiency, non-ketotic hyperglycinemia, and maternal phenylketonuria. Urine aminogram, urine metabolic screen and Karyotyping were normal; however, genetic studies for the EMX2 gene (associated with Schizencephaly) could not be undertaken. The baby was discharged on oral phenobarbitone and phenytoin after seizure control. The baby failed to attain the expected milestones and at 50 days of age, came back with a few days' history of epileptic spasms. On follow-up into the 10th month, the spasms were under control with Sodium Valproate and Phenobarbitone. The baby had not yet attained complete head steadiness, was floppy, could not sit with support, communicated with his mother by eye contact; and could not vocalize.
Discussion
During embryogenesis, errors in the stage of ventral induction from weeks 5 to 10 result in ACC and Dandy Walker malformation, whereas neuronal migration disorders are due to defects in the 2nd to 5th month. Therefore the only risk factor picked up in this child, that is PIH could not be the cause of CCA. The first symptoms of CCA are usually seizures in a child with developmental delay. The incidence of any other cerebral malformation with CCA is 85%. The incidence of specific CNS malformations with CCA is Dandy Walker cyst (11%), hydrocephalus (30%), midline lipoma of the corpus callosum (10%), and Arnold Chiari malformation More Details (7%). The incidence of the other nervous system malformations, coexisting with CCA including interhemispheric cysts, midline encephalocele, porencephalic cyst, holoprosencephaly, schizencephaly, polymicrogyria and gray matter heterotopia are not available in the literature. Dysgenesis of the corpus callosum has been documented in 20-25% of cases of DWM.
The vegetative state of this child is probably due to the multiple brain malformations; of which bilateral open lip schizencephaly is uniformly associated with a child who has gross developmental delay and seizures[8]. Antenatal ultrasound or MRI diagnosis of CCA is possible from about 20 weeks' gestation. The recurrence risk of CCA, in a sibling depends on whether it is isolated or associated with inborn errors of metabolism or genetic syndromes. We also intend to emphasize that Schizencephaly and CCA are two of the congenital brain malformations that can be clearly delineated by a CT scan of the head whereas other brain malformations are better delineated by MR imaging.
References
1. Filteau MJ, Pourcher E, Bouchard RH, et al. Midline anomalies and organic psychosis: congenital or degenerative A cross-sectional study of 62 patients with Audermann syndrome. Eur Psychiatry 1992; 7 : 109-113.
2. Renier D, Arnaud E, Cinalli G et al. Prognosis for mental function in Apert's syndrome. J Neurosurg 1996; 85 : 66-72.
3. Nikokiktjien C. Absence of the corpus callosum: clinicopathological correlations. In: Nikokiktjien C, Ramaekers G, eds. Paediatric Behavioural Neurology. Vol 3. The child's corpus callosum . Amsterdam: Suyi Publications, 1991; 235-250.
4. Ruge JR, Newland TS. Agenesis of the corpus callosum: female monozygotic triplets. Case report. J Neurosurg 1996; 85 : 152-156.
5. Byrd SE, Radkowski MA, Flannery A. The clinical and radiological evaluation of absence of the corpus callosum. Eur J Radiol 1990; 10 : 65-73.
6. Bodensteiner J, Schaefer GB, Breeding L et al. Hypoplasia of the corpus callosum: a study of 445 consecutive MRI scans . J Child Neurol 1994;9: 47-49.
7. Del Campo M, Hall BD, Aeby A et al. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet 1999; 85 : 479-485.
8. Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G. Schizencephaly: clinical spectrum, epilepsy, and pathogenesis. J Child Neurol 2005; 20(4) : 313-318.(Prasad Maya, Iype Mary, N)
2 Department of Pediatric Neurology, Medical College Trivandrum, Kerala, India
Abstract
We report a case of a new born who presented with neonatal seizures; and who had coexistence of a Corpus Callosum Agenesis with a bilateral Open lip Schizencephaly and a Dandy Walker malformation. The investigations for an underlying etiology, however was futile.
Keywords: Agenesis; Corpus callosum; Schizencephaly
Agenesis of the corpus callosum (CCA) may be associated with Dandy Walker malformation (DWM), Schizencephaly, other migrational anomalies and midline anomalies like cleft palate. It may be part of Aicardi, Andermann[1], and Apert[2] syndromes, trisomies 8, 13 or 18[3] or may be X linked[4]. Metabolic disorders and substance abuse are also postulated etiologies. A hospital based radiological survey[5] found callosal dysgenesis in 21% of children scanned, while Bodensteiner et al[6] found an incidence of 1.6% for partial or complete CCA. Schizencephaly (unilateral or bilateral) is an abnormal cleft in the brain, lined with gray matter that may communicate with the ventricular system; the latter is called an open lip Schizencephaly. There are very few reports of Schizencephaly in a patient with CCA.[7]
Case Report
A three-day-old term male infant, born of a non- consanguineous marriage and an uncomplicated normal delivery, presented with focal seizures on day one. The mother was on Alpha Methyl Dopa from late in the second trimester, for pregnancy induced hypertension (PIH). The baby had a birth weight of 3.4 kg, microcephaly and a low anterior hairline. Known biochemical causes for a neonatal seizure were excluded. A CT scan of the head showed bilateral open lip schizencephaly and corpus callosal agenesis Figure1 with DWM. The axial CT showed parallel widely separated frontal horns of the lateral ventricles, a high riding third ventricle and bilateral Open Lip Schizencephaly. Colpocephaly which is a usual accompaniment of CCA, was remarkable by its absence. The CT scan also showed hypoplasia of the cerebellar vermis, enlargement of the posterior fossa and an abnormal communication of the fourth ventricle with the posterior fossa.
An Electroencephalogram taken on the 4th day of seizure revealed isolated bursts of sharp waves occurring independently on either side; typically described as the checkerboard pattern in CCA Figure2. A metabolic work up was done to exclude Pyruvate dehydrogenase deficiency, non-ketotic hyperglycinemia, and maternal phenylketonuria. Urine aminogram, urine metabolic screen and Karyotyping were normal; however, genetic studies for the EMX2 gene (associated with Schizencephaly) could not be undertaken. The baby was discharged on oral phenobarbitone and phenytoin after seizure control. The baby failed to attain the expected milestones and at 50 days of age, came back with a few days' history of epileptic spasms. On follow-up into the 10th month, the spasms were under control with Sodium Valproate and Phenobarbitone. The baby had not yet attained complete head steadiness, was floppy, could not sit with support, communicated with his mother by eye contact; and could not vocalize.
Discussion
During embryogenesis, errors in the stage of ventral induction from weeks 5 to 10 result in ACC and Dandy Walker malformation, whereas neuronal migration disorders are due to defects in the 2nd to 5th month. Therefore the only risk factor picked up in this child, that is PIH could not be the cause of CCA. The first symptoms of CCA are usually seizures in a child with developmental delay. The incidence of any other cerebral malformation with CCA is 85%. The incidence of specific CNS malformations with CCA is Dandy Walker cyst (11%), hydrocephalus (30%), midline lipoma of the corpus callosum (10%), and Arnold Chiari malformation More Details (7%). The incidence of the other nervous system malformations, coexisting with CCA including interhemispheric cysts, midline encephalocele, porencephalic cyst, holoprosencephaly, schizencephaly, polymicrogyria and gray matter heterotopia are not available in the literature. Dysgenesis of the corpus callosum has been documented in 20-25% of cases of DWM.
The vegetative state of this child is probably due to the multiple brain malformations; of which bilateral open lip schizencephaly is uniformly associated with a child who has gross developmental delay and seizures[8]. Antenatal ultrasound or MRI diagnosis of CCA is possible from about 20 weeks' gestation. The recurrence risk of CCA, in a sibling depends on whether it is isolated or associated with inborn errors of metabolism or genetic syndromes. We also intend to emphasize that Schizencephaly and CCA are two of the congenital brain malformations that can be clearly delineated by a CT scan of the head whereas other brain malformations are better delineated by MR imaging.
References
1. Filteau MJ, Pourcher E, Bouchard RH, et al. Midline anomalies and organic psychosis: congenital or degenerative A cross-sectional study of 62 patients with Audermann syndrome. Eur Psychiatry 1992; 7 : 109-113.
2. Renier D, Arnaud E, Cinalli G et al. Prognosis for mental function in Apert's syndrome. J Neurosurg 1996; 85 : 66-72.
3. Nikokiktjien C. Absence of the corpus callosum: clinicopathological correlations. In: Nikokiktjien C, Ramaekers G, eds. Paediatric Behavioural Neurology. Vol 3. The child's corpus callosum . Amsterdam: Suyi Publications, 1991; 235-250.
4. Ruge JR, Newland TS. Agenesis of the corpus callosum: female monozygotic triplets. Case report. J Neurosurg 1996; 85 : 152-156.
5. Byrd SE, Radkowski MA, Flannery A. The clinical and radiological evaluation of absence of the corpus callosum. Eur J Radiol 1990; 10 : 65-73.
6. Bodensteiner J, Schaefer GB, Breeding L et al. Hypoplasia of the corpus callosum: a study of 445 consecutive MRI scans . J Child Neurol 1994;9: 47-49.
7. Del Campo M, Hall BD, Aeby A et al. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet 1999; 85 : 479-485.
8. Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G. Schizencephaly: clinical spectrum, epilepsy, and pathogenesis. J Child Neurol 2005; 20(4) : 313-318.(Prasad Maya, Iype Mary, N)